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(Q28371208)
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PDGFRA V561A
genetic variant
V561A
VAL561ALA
RS121908586
In more languages
default values for all languages
No label defined
No description defined
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Statements
instance of
missense mutation
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/247
chromosome
human chromosome 4
genomic assembly
Genome assembly GRCh37
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/247
genomic start
55141036
genomic assembly
Genome assembly GRCh37
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/247
genomic end
55141036
genomic assembly
Genome assembly GRCh37
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/247
biological variant of
PDGFRA
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/247
positive therapeutic predictor for
imatinib
medical condition treated
gastrointestinal stromal tumor
determination method
CIViC evidence level D
rating
CIViC 3-star trust rating
1 reference
curator
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/evidence/652
stated in
Gain-of-function mutations of platelet-derived growth factor receptor alpha gene in gastrointestinal stromal tumors.
Identifiers
CIViC variant ID
247
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/247
dbSNP Reference SNP number
rs121908586
1 reference
stated in
CIViC database
HGVS nomenclature
ENST00000257290.5:c.1682T>C
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/247
NC_000004.11:g.55141036T>C
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/247
NM_006206.5:c.1682T>C
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/247
NP_006197.1:p.Val561Ala
1 reference
stated in
CIViC database
retrieved
28 March 2022
reference URL
https://civic.genome.wustl.edu/links/variants/247
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